Incidental Mutation 'R0497:Dnmbp'
| ID |
40570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmbp
|
| Ensembl Gene |
ENSMUSG00000025195 |
| Gene Name |
dynamin binding protein |
| Synonyms |
2410003L07Rik, 2410003M15Rik, Tuba |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43835260-43928630 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 43845079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026209]
[ENSMUST00000212032]
[ENSMUST00000212048]
[ENSMUST00000212396]
[ENSMUST00000212592]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026209
|
| SMART Domains |
Protein: ENSMUSP00000026209
Gene: ENSMUSG00000025195
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
5 |
60 |
6.75e-14 |
SMART |
|
SH3
|
69 |
126 |
3.33e-4 |
SMART |
|
SH3
|
149 |
204 |
6.85e-15 |
SMART |
|
SH3
|
247 |
302 |
8.43e-15 |
SMART |
|
low complexity region
|
601 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
coiled coil region
|
694 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
764 |
N/A |
INTRINSIC |
|
RhoGEF
|
787 |
969 |
4.84e-39 |
SMART |
|
BAR
|
999 |
1213 |
6.21e-55 |
SMART |
|
SH3
|
1291 |
1350 |
4.62e-1 |
SMART |
|
low complexity region
|
1354 |
1374 |
N/A |
INTRINSIC |
|
SH3
|
1519 |
1578 |
1.08e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212048
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212592
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the DBL family of guanine nucleotide exchange factors. The encoded protein has been proposed to regulate the actin cytoskeleton by specifically activating the Rho-family GTPase Cdc42. An interaction between the encoded protein and a Listeria protein has been shown to mediate Listeria infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
C |
11: 119,909,606 (GRCm39) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,495,606 (GRCm39) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,228,328 (GRCm39) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,918,641 (GRCm39) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,697,900 (GRCm39) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,342,989 (GRCm39) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,617,483 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,334 (GRCm39) |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,957,819 (GRCm39) |
V972A |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,511,881 (GRCm39) |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,529,395 (GRCm39) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,402,263 (GRCm39) |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,260 (GRCm39) |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,296,783 (GRCm39) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,401,672 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,967,724 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,017,420 (GRCm39) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,112,194 (GRCm39) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,003,401 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,228 (GRCm39) |
T2162S |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,890 (GRCm39) |
C1158S |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,387 (GRCm39) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,571,248 (GRCm39) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,303 (GRCm39) |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,114,985 (GRCm39) |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,449 (GRCm39) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,710,665 (GRCm39) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,772 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,710 (GRCm39) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,167,809 (GRCm39) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,541,524 (GRCm39) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,641,826 (GRCm39) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,054,505 (GRCm39) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,493 (GRCm39) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Omt2b |
T |
C |
9: 78,235,513 (GRCm39) |
|
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,175 (GRCm39) |
D137G |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,177,094 (GRCm39) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,479,167 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,595,534 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,954 (GRCm39) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,588,689 (GRCm39) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,664,098 (GRCm39) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,460,963 (GRCm39) |
M255R |
probably damaging |
Het |
| Slc49a4 |
A |
T |
16: 35,555,974 (GRCm39) |
V162D |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,976,910 (GRCm39) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,937,032 (GRCm39) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,464,630 (GRCm39) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 66,916,748 (GRCm39) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,755,177 (GRCm39) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,288,168 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,178,920 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,711,053 (GRCm39) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,682,668 (GRCm39) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,118 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,953 (GRCm39) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,595,394 (GRCm39) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,755 (GRCm39) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,410,938 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,974,306 (GRCm39) |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,378,299 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,621,914 (GRCm39) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 166,897,331 (GRCm39) |
Q531L |
probably benign |
Het |
|
| Other mutations in Dnmbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Dnmbp
|
APN |
19 |
43,890,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Dnmbp
|
APN |
19 |
43,890,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01443:Dnmbp
|
APN |
19 |
43,891,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01569:Dnmbp
|
APN |
19 |
43,863,295 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01818:Dnmbp
|
APN |
19 |
43,889,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Dnmbp
|
APN |
19 |
43,855,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Dnmbp
|
APN |
19 |
43,855,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Dnmbp
|
APN |
19 |
43,842,566 (GRCm39) |
splice site |
probably benign |
|
|
IGL02736:Dnmbp
|
APN |
19 |
43,838,209 (GRCm39) |
splice site |
probably benign |
|
|
ANU18:Dnmbp
|
UTSW |
19 |
43,890,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,890,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0013:Dnmbp
|
UTSW |
19 |
43,890,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,891,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Dnmbp
|
UTSW |
19 |
43,891,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Dnmbp
|
UTSW |
19 |
43,862,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0129:Dnmbp
|
UTSW |
19 |
43,838,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0288:Dnmbp
|
UTSW |
19 |
43,890,898 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0322:Dnmbp
|
UTSW |
19 |
43,843,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Dnmbp
|
UTSW |
19 |
43,840,875 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Dnmbp
|
UTSW |
19 |
43,843,296 (GRCm39) |
nonsense |
probably null |
|
|
R1306:Dnmbp
|
UTSW |
19 |
43,890,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1765:Dnmbp
|
UTSW |
19 |
43,890,579 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1800:Dnmbp
|
UTSW |
19 |
43,890,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1846:Dnmbp
|
UTSW |
19 |
43,891,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Dnmbp
|
UTSW |
19 |
43,890,007 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2001:Dnmbp
|
UTSW |
19 |
43,838,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2131:Dnmbp
|
UTSW |
19 |
43,842,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Dnmbp
|
UTSW |
19 |
43,890,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2238:Dnmbp
|
UTSW |
19 |
43,857,303 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2372:Dnmbp
|
UTSW |
19 |
43,890,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Dnmbp
|
UTSW |
19 |
43,838,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5093:Dnmbp
|
UTSW |
19 |
43,838,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5249:Dnmbp
|
UTSW |
19 |
43,890,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5970:Dnmbp
|
UTSW |
19 |
43,842,610 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6168:Dnmbp
|
UTSW |
19 |
43,838,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,889,950 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6189:Dnmbp
|
UTSW |
19 |
43,878,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dnmbp
|
UTSW |
19 |
43,836,624 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6256:Dnmbp
|
UTSW |
19 |
43,840,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6461:Dnmbp
|
UTSW |
19 |
43,855,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6599:Dnmbp
|
UTSW |
19 |
43,845,025 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6704:Dnmbp
|
UTSW |
19 |
43,889,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Dnmbp
|
UTSW |
19 |
43,889,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Dnmbp
|
UTSW |
19 |
43,890,180 (GRCm39) |
missense |
probably benign |
|
|
R7409:Dnmbp
|
UTSW |
19 |
43,878,996 (GRCm39) |
missense |
unknown |
|
|
R7548:Dnmbp
|
UTSW |
19 |
43,877,838 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7755:Dnmbp
|
UTSW |
19 |
43,838,525 (GRCm39) |
missense |
probably benign |
|
|
R7814:Dnmbp
|
UTSW |
19 |
43,842,615 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7954:Dnmbp
|
UTSW |
19 |
43,890,742 (GRCm39) |
missense |
probably benign |
|
|
R7955:Dnmbp
|
UTSW |
19 |
43,890,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8282:Dnmbp
|
UTSW |
19 |
43,879,005 (GRCm39) |
missense |
unknown |
|
|
R8385:Dnmbp
|
UTSW |
19 |
43,878,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8696:Dnmbp
|
UTSW |
19 |
43,862,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Dnmbp
|
UTSW |
19 |
43,900,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8819:Dnmbp
|
UTSW |
19 |
43,889,854 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8824:Dnmbp
|
UTSW |
19 |
43,838,276 (GRCm39) |
missense |
probably benign |
|
|
R8902:Dnmbp
|
UTSW |
19 |
43,890,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Dnmbp
|
UTSW |
19 |
43,878,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8977:Dnmbp
|
UTSW |
19 |
43,840,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9628:Dnmbp
|
UTSW |
19 |
43,858,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9635:Dnmbp
|
UTSW |
19 |
43,855,974 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9771:Dnmbp
|
UTSW |
19 |
43,855,031 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,890,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Dnmbp
|
UTSW |
19 |
43,863,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,877,806 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Dnmbp
|
UTSW |
19 |
43,855,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAATGTCACTTACAAACCGTGTGAA -3'
(R):5'- GCTCCTGCTCACAGATGACATACAAA -3'
Sequencing Primer
(F):5'- CTTACAAACCGTGTGAAGAGCTG -3'
(R):5'- tctctctctctctctctctctttc -3'
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| Posted On |
2013-05-23 |
Incidental Mutation